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Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).

Liane FischerCaroline WildeTorsten SchönebergInes Liebscher
Published in: BMC genomics (2016)
Our results show that a broad spectrum of functionally relevant ADGRD1 variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous.
Keyphrases
  • endothelial cells
  • early onset
  • copy number
  • induced pluripotent stem cells
  • pluripotent stem cells
  • escherichia coli
  • dna methylation